Search

Claudia Soler-Alfonso,1 Michael J Bennett,2 Can Ficicioglu1 1Department of Pediatrics, Section of Metabolic Disease, 2Department of Pathology and Laboratory Medicine, The Children’s Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA Abstract: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common disorder associated with fatty acid oxidation. The disorder is characterized by inability to generate sufficient energy from fatty acid metabolism during periods of catabolic stress caused by intercurrent illness or prolonged fasting. The metabolic consequences are severe and include hypoketotic hypoglycemia leading to a Reye-like hepatic encephalopathy syndrome and sudden death. If individuals are detected before a life-threatening episode, the complications of MCAD deficiency are preventable. Newborn metabolic screening enables the early detection of MCAD deficiency in many countries worldwide. The metabolic marker for MCAD deficiency “octanoylcarnitine” (C8) can be detected with a high degree of sensitivity in the newborns by tandem mass spectrometry. The 985A>G (K329E) mutation accounts for the majority of disease alleles, and approximately 47%–80% of MCAD patients are homozygotes for this mutation. Newborns homozygous for the 985A>G mutation have higher octanoylcarnitine levels than those who are heterozygous for 985A>G mutation or possess other genotypes. Time of sampling after birth and prematurity may affect the octanoylcarnitine levels in MCAD-deficient newborns. Tandem mass spectrometry newborn blood spot screening for MCAD deficiency is accurate and effective, and reduces morbidity and mortality in affected children. Keywords: MCAD, newborn screening, C8, octanoylcarnitine, tandem mass spectrometry, sudden death in childhood

The physics emphases of the PHENIX collaboration and the design and currentstatus of the PHENIX detector are discussed. The plan of the collaboration formaking the most effective use of the available luminosity in the first years ofRHIC operation is also presented.

The article discusses a study which compared two cardiopulmonary bypass systems. It examines the effects of performing minimal haemodilution with a miniaturised (Mini-CPB) circuit in comparison with that of a conventional CPB (C-CPB) circuit. Based on cardiac surgery on 80 patients, the study concludes that with Mini-CPB, the average bypass pump flow was lower but the average oxygen delivery was the same with C-CPB.

Copyright of Journal of Laboratory Medicine / Laboratoriums Medizin is the property of De Gruyter and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Nurses spend more time with their patients than do other health care workers. Therefore, the spiritual needs of patients must be recognized as a domain of nursing care. Holism cannot exist without consideration of the spiritual aspects that create individuality and give meaning to people's lives. The purpose of this article is to provide nursing faculty with tools that may be used to develop spiritually knowledgeable nursing students who can overcome barriers to providing spiritual care to end-of-life patients. Our students were required to complete care maps to ensure they are prepared for patient care at the end of life. In this article, we present tools that faculty and students may use to complete the spiritual concept in care mapping. The literature on spirituality is reviewed, use of care mapping in nursing curricula is described, and our teaching approach to develop nursing students who are skilled at providing spiritual care is explained. Three case studies and care maps created by former students are also presented to demonstrate examples of spiritual competence. [ABSTRACT FROM AUTHOR]

Glutaric acidemia type I (GA-I) is a progressive neurodegenerative disease caused by a deficiency of glutaryl-CoA dehydrogenase (GCDH) and accumulation of glutaric, glutaconic, and 3-hydroxyglutaric acids in an affected patient's urine.Tandem mass spectrometry (MS/MS)-based detection of glutarylcarnitine in dried blood-spots forms the basis for screening for GA-I in asymptomatic individuals. The presence of normal levels of plasma glutarylcarnitine in asymptomatic individuals with GA-I deficiency may be falsely reassuring because urine glutarylcarnitine levels may be elevated in these individuals.Measurement of urinary glutarylcarnitine levels by MS/MS should be part of the screening and diagnostic protocol for identifying individuals with GA-I, especially in populations with a high incidence of GA-I, because these patients may benefit from early diagnosis and the introduction of dietary management during the pre-symptomatic stage of this disease. [ABSTRACT FROM AUTHOR]

Objective: To study the effect of child birth on pelvic organ mobility in a prospective observational study.Methods: A total of 200 women were recruited early in their first ongoing pregnancy and examined by translabial ultrasound in the first/early second trimester, the late third trimester, and 2-5 months postpartum. Peripartal changes in the mobility of urethra, bladder, cervix, and rectal ampulla were correlated with labor and delivery data.Results: A total of 169 women returned postpartum (84.5%). Highly significant increases in organ mobility on Valsalva were found after vaginal delivery (P <.001), with forceps causing the most marked changes. Length of second stage, especially active second stage, correlated with an increase in pelvic organ descent (P =.03 to P <.001). The influence of gestational age, length of first stage, and birth weight did not reach significance.Conclusion: Vaginal birth, in particular operative delivery, negatively affects pelvic organ support. This appears to be true for all three vaginal compartments. All forms of cesarean delivery were associated with relatively less pelvic organ descent. These findings may partly explain the protective effect of elective cesarean delivery for future symptoms of pelvic floor disorders. [ABSTRACT FROM AUTHOR]

BACKGROUND: Müllerian dysgenesis occurs in approximately 1 in 5000 live-born females. There have been many methods described for creation of a functionally useful vagina in cases of Müllerian dysgenesis. Given the number of available methods and the infrequency of the condition, outcome data can be difficult to obtain. AIM: To perform a retrospective review of presentation, treatment and outcomes in cases of Müllerian dysgenesis seen at the adolescent gynaecology unit at the Royal Hospital for Women, Sydney. METHODS: Thirty women with Müllerian dysgenesis were identified between January 2000 and December 2004. Of these, 23 had Müllerian agenesis and seven had partial vaginal agenesis. As this audit and review conform with the standards established by the National Health and Medical Research Council for ethical quality review, ethics approval was not sought. RESULTS: Dilator therapy under the guidance of a trained clinical nurse educator was successful in creating a functionally useful vagina and was well tolerated in all cases of Müllerian agenesis. Patients suffering from segmental vaginal agenesis all had surgical creation of a neovagina with the aid of an amnion vaginoplasty. All patients who were referred following surgical drainage of their haematocolpos outside the unit became infected and needed to undergo further surgery prior to creation of a neovagina. Fibrotic vaginal bands developed only in these patients. CONCLUSION: The outcomes reinforce the TASPAG guidelines of management for Müllerian dysgenesis, which suggest that dilators are generally effective in creating a functionally useful vagina, and if surgery is required, the primary operation should be definitive and performed by well-trained experts. [ABSTRACT FROM AUTHOR]

Strigolactones (SLs) are key regulators of shoot growth and responses to environmental stimuli. Numerous studies have indicated that nitrogen (N) limitation induces SL biosynthesis, suggesting that SLs may play a pivotal role in coordinating systemic responses to N availability, but this idea has not been clearly demonstrated. Here, we generated triple knockout mutants in the SL synthesis gene TaDWARF17 (TaD17) in bread wheat and investigated their phenotypic and transcriptional responses under N limitation, aiming to elucidate the role of SLs in the adaptation to N limitation. Tad17 mutants display typical SL mutant phenotypes, and fail to adapt their shoot growth appropriately to N. Despite exhibiting an increased tillering phenotype, Tad17 mutants continued to respond to N limitation by reducing tiller number, suggesting that SLs are not the sole regulators of tillering in response to N availability. RNA-seq analysis of basal nodes revealed that the loss of D17 significantly altered the transcriptional response of N-responsive genes, including changes in the expression profiles of key N response master regulators. Crucially, our findings suggest that SLs are required for the transcriptional downregulation of cytokinin (CK) synthesis and signalling in response to N limitation. Collectively, our results suggest that SLs are essential for the appropriate morphological and transcriptional adaptation to N limitation in wheat, and that the repressive effect of SLs on shoot growth is partly mediated by their repression of CK synthesis., (© 2024 The Author(s). The Plant Journal published by Society for Experimental Biology and John Wiley & Sons Ltd.)

Spatiotemporal soil heterogeneity and the resulting edaphic stress cycles can be decisive for crop growth. However, our understanding of the acclimative value of root responses to heterogeneous soil conditions remains limited. We outline a framework to evaluate the acclimative value of root responses that distinguishes between stress responses that are persistent and reversible upon stress release, termed 'plasticity' and 'elasticity', respectively. Using energy balances, we provide theoretical evidence that the advantage of plasticity over elasticity increases with the number of edaphic stress cycles and if responses lead to comparatively high energy gains. Our framework provides a conceptual basis for assessing the acclimative value of root responses to soil heterogeneity and can catalyse research on crop adaptations to heterogeneous belowground environments., Competing Interests: Declaration of interests The authors declare no competing interests., (Copyright © 2024 The Author(s). Published by Elsevier Ltd.. All rights reserved.)

Harnessing genetic diversity in major staple crops through the development of new breeding capabilities is essential to ensure food security 1 . Here we examined the genetic and phenotypic diversity of the A. E. Watkins landrace collection 2 of bread wheat (Triticum aestivum), a major global cereal, by whole-genome re-sequencing of 827 Watkins landraces and 208 modern cultivars and in-depth field evaluation spanning a decade. We found that modern cultivars are derived from two of the seven ancestral groups of wheat and maintain very long-range haplotype integrity. The remaining five groups represent untapped genetic sources, providing access to landrace-specific alleles and haplotypes for breeding. Linkage disequilibrium-based haplotypes and association genetics analyses link Watkins genomes to the thousands of identified high-resolution quantitative trait loci and significant marker-trait associations. Using these structured germplasm, genotyping and informatics resources, we revealed many Watkins-unique beneficial haplotypes that can confer superior traits in modern wheat. Furthermore, we assessed the phenotypic effects of 44,338 Watkins-unique haplotypes, introgressed from 143 prioritized quantitative trait loci in the context of modern cultivars, bridging the gap between landrace diversity and current breeding. This study establishes a framework for systematically utilizing genetic diversity in crop improvement to achieve sustainable food security., (© 2024. The Author(s).)

Parathyroid carcinoma (PC) is a rare endocrine malignancy and an uncommon cause of primary hyperparathyroidism. Metastatic disease confers a guarded prognosis with limited systemic treatment options available. We describe a case of a 64-year-old woman with primary hyperparathyroidism secondary to PC. Despite initial surgical resection, the patient relapsed within 6 months with widespread cerebral and skeletal metastatic disease. She developed worsening parathyroid hormone-mediated hypercalcemia that was refractory to escalating doses of cinacalcet and antiresorptive therapy. Molecular genomics identified high tumor mutation burden within the malignant tissue and single-agent nivolumab immunotherapy was administered. After one dose, there was resolution of her refractory hypercalcemia and primary hyperparathyroidism. The patient has tolerated ongoing treatment with 3 weekly cycles of nivolumab. She remains in biochemical remission as of June 2024, which is now 12 months after commencement of nivolumab., (© The Author(s) 2024. Published by Oxford University Press on behalf of the Endocrine Society.)

The root angle plays a critical role in efficiently capturing nutrients and water from different soil layers. Steeper root angles enable access to mobile water and nitrogen from deeper soil layers, whereas shallow root angles facilitate the capture of immobile phosphorus from the topsoil. Thus, understanding the genetic regulation of the root angle is crucial for breeding crop varieties that can efficiently capture resources and enhance yield. Moreover, this understanding can contribute to developing varieties that effectively sequester carbon in deeper soil layers, supporting global carbon mitigation efforts. Here we review and consolidate significant recent discoveries regarding the molecular components controlling root angle in cereal crop species and outline the remaining research gaps in this field., Competing Interests: Declaration of interests The authors declare no competing interests., (Copyright © 2024 The Author(s). Published by Elsevier Ltd.. All rights reserved.)